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Table 1 In total, 3750 panels were analyzed by the 15 different teams in GMCK-RD. In total, there were 34% (n = 1285) positive findings. Abbreviation in parenthesis refers to the sheet in Additional file 2: Table S6, where the contents of the gene panels are described in detail

From: Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Panels Number of analyses Solved (%) Number of genes (from 2015 to 2019)
Metabolic including mitochondrial diseases (singleton analysis) (IEM) 849 274 (32%) 610–870
Neuromuscular and ataxia disease (singleton analysis) (NMD) 455 189 (42%) 499–622
Targeted gene panel (HPO etc.) (singleton analysis) 429 124 (29%) Variable
Severe infantile epilepsy (trio analysis) (EP) 327 101 (31%) 138–353
Immunology (singleton analysis) including neutropenia (PID) 300 88 (29%) 26–425
OMIM morbid gene panel (trio analysis) (OMIM-morbid) 281 116 (41%) 3103–3921
Intellectual disability and malformation syndromes (singleton analysis) (ID) 304 119 (39%) 885–987
Connective tissue disease (singleton analysis) (CTD) 245 68 (28%) 101–118
Skeletal dysplasia (singleton analysis) (SKD) 212 115 (54%) 376–468
Inherited cancer (singleton analysis) (IC) 147 29 (20%) 116–154
Disorder of sex development (singleton analysis) (DSD) 68 17 (25%) 118–130
Pediatric hepatology (singleton analysis) (PEDHEP) 53 18 (34%) 58–124
Ciliopathy (singleton analysis) (CIL) 36 19 (53%) 168–195
Neurodegenerative disorders (singleton analysis) (NDD) 32 6 (19%) 81–88
Fetal hydrops (singleton analysis) (FETHYD) 12 6 (50%) 57–104